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Bioscience

Genomics

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Displaying 101 - 125 of 166

Best practices for benchmarking germline small-variant calls in human genomes

March 11, 2019
Author(s)
Justin M. Zook, Marc L. Salit
Standardized benchmarking approaches are required to assess the accuracy of variants called from sequence data. Although variant- calling tools and the metrics used to assess their performance continue to improve, important challenges remain. Here, as part

CrowdVariant: a crowdsourcing approach to curate copy number variants

January 6, 2019
Author(s)
Justin M. Zook, Marc L. Salit, Peyton Greenside, Ryan Poplin, Mark DePristo, Madeleine Cule
Copy number variants (CNVs) are an important type of genetic variation and play a causal role in many diseases. However, they are also notoriously difficult to identify accurately from next-generation sequencing (NGS) data. For larger CNVs, genotyping

Aflatoxin-guanine DNA Adducts and Oxidatively-induced DNA Damage in Aflatoxin-treated Mice in vivo as Measured by Liquid Chromatography-Tandem Mass Spectrometry with Isotope-dilution

December 11, 2018
Author(s)
Erdem Coskun, Pawel Jaruga, Vladimir Vartanian, Onur Erdem, Patricia Egner, John D. Groopman, R. S. Lloyd, Miral M. Dizdar
Dietary exposure to aflatoxin (AFB1) is a significant reason for the incidence of hepatocellular carcinomas globally. AFB1-exposure leads to the formation of AFB1-N7-guanine (AFB1-N7-Gua) and two diastereomers of 8,9-dihydro-8-(2,6-diamino-4-oxo-3,4

Conference Report: Representing Ethnic Diversity for Precision Medicine

August 23, 2018
Author(s)
Justin M. Zook, Luke Hickey, Benedict Paten, Robert Sebra, Valerie Schneider
There is a pressing need to better represent ethnic diversity with genomic resources — and to do so in a way that maximizes utility for people working with the Genome Reference Consortium’s human reference genome. That was the theme of a panel discussion

Tools for annotation and comparison of structural variation

October 3, 2017
Author(s)
Justin M. Zook, Fritz Sedlazeck, Andi Dhroso, Justin Paschall
The impact of structural variants (SVs) on a variety of organisms and diseases like cancer has become increasingly evident. Methods for SV detection when studying genomic differences across cells, individuals or populations are being actively developed

Using metagenomic methods to detect organismal contaminants in microbial materials.

September 12, 2017
Author(s)
Nathanael D. Olson, Justin M. Zook, Jayne B. Morrow, Nancy J. Lin
High sensitivity methods as next generation sequencing and PCR are adversely impacted by organismal and DNA contaminants. Current methods for detecting contaminants in microbial materials (genomic DNA and cultures) are not sensitive enough and require

Exposure to Engineered Nanomaterials: Impact on DNA Repair Pathways

July 13, 2017
Author(s)
Neenu Singh, Bryant C. Nelson, Leona D. Scanlan, Erdem Coskun, Pawel Jaruga, Shareen Doak
Some engineered nanomaterials (ENMs) may have the potential to cause damage to the genetic material in living systems. The mechanistic machinery functioning at the cellular/molecular level, in the form of DNA repair processes, has evolved to help